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ABCA1 AR unreviewed

Tangier disease

Reverse cholesterol transport

Enzyme or protein defect

ABCA1 cholesterol efflux transporter

Accumulates or becomes deficient

Cholesteryl esters in reticuloendothelial cells

Key features

Near-absent HDL, orange tonsils, hepatosplenomegaly, neuropathy

Management

Supportive

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

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Europe PMC · from cache · sorted by publication date

  1. 1
    Exploration of precision coregulator TR-FRET identifies diverse signatures for LXR ligands relevant to discovery of nonlipogenic ABCA1 inducers.

    Laham MS, Ackerman-Berrier MS, Alam F, Turner S, Velma GR, Penton C, Musku SR, Rana M, Thulasingam S, Annadur… · 2026-06-22

    open access unreviewed
  2. 2
    Lipid lowering therapy in Tangier disease: what is the best association?

    Sbrana F, Dal Pino B. · 2026-06-12

    unreviewed
  3. 3
    Correction: Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N‑of‑1 Trial with 21 months Clinical Observation.

    Cook A, Stuart B, Ochoa-Ferraro A, Condon N, Lawrence M, Webley F, Wallom KL, Forbes C, Veeranna V, Wanninaya… · 2026-06-01

    open access unreviewed
  4. 4
    Rare variants in cholesterol transporter genes in patients with lipid metabolism disorders.

    Izyumchenko AD, Grunina MN, Dracheva KV, Chumakova OA, Tanayants KO, Legostaeva KV, Kulikov AN, Berkovich OA,… · 2026-05-01

    open access unreviewed
  5. 5
    Molecular and Genetic Aspects of Lipid Metabolism Disorders and Potential Targets for Gene Therapy.

    Akhmetzyanova ER, Timofeeva AV, Gallyamov DR, Rizvanov AA, Mukhamedshina YO. · 2025-10-30

    open access unreviewed
  6. 6
    Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.

    Rayana NP, Gogna N, Krebs MP, Collin GB, Naggert JK, Nishina PM. · 2026-05-22

    open access unreviewed
  7. 7
    Lipid transport mechanisms in human ABCA family transporters: a structural perspective.

    Dolai S, Alam A. · 2026-05-01

    open access unreviewed
  8. 8
    ABCA1-Mediated Structural Diversity of HDL Subspecies and Their Proposed Roles in Cardioprotection.

    Heinecke JW, Segrest JP, Phillips MC, Davidson WS. · 2026-03-26

    cited 1× unreviewed
  9. 9
    Ferroptosis as a Novel Therapeutic Strategy to Overcome Multidrug Resistance in Colorectal Cancer.

    Mahemuti D, Ma L, Siddiqe W, Tang Z, Kong Y, Li W, Zhang Z, Su Z, Maimaitijiang A. · 2026-02-01

    open access unreviewed
  10. 10
    ABCA1: A Therapeutic Target for Improving Cholesterol Homeostasis in Peripheral Neuropathies.

    Woo YH, Schmidt NE, Johansson JO, Notterpek L. · 2026-02-22

    cited 1× open access unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.